Gene/Protein Disease Symptom Drug Enzyme Compound
Pivot Concepts:   Target Concepts:
Query: UMLS:C0021051 (immunodeficiency)
 71,517 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

The universal rule of TA/CG deficiency-TG/CT excess endures the extremely high mutation rate of a retrovirus (human immunodeficiency virus type 1) as well as methylation of CAG rather than CG in a plant (maize). Among the consistently abundant nucleotide oligomers, there are two complementary pairs of palindromic nucleotide pentamers containing TG and CA. Out of the CAGTG and CACTG pair emerged the heptameric pair for the long-distance recombination of immunoglobulin genes, CACAGTG and CACTGTG. Reflecting their origin, these heptamers are found everywhere in all DNA, and a substantial fraction of them are accompanied by nonameric components properly spaced from them. It appears that, were the recombination event not confined to B cells, results of illegitimate recombinations might be disastrous. The other pentameric pair is TGCAT and ATGCA. Out of this pair emerged the complementary pair of transcription enhancer decamers: TNATTTGCAT for immunoglobulin light chains and ATGCAAATNA for immunoglobulin heavy chains. Again reflecting their origin, these decamers are found everywhere in all DNA and some genes--for example, in the 3' flanking region of immunoglobulin heavy chain constant region--are accompanied by a downstream "TATA box." It seems that even with regard to the productively recombined immunoglobulin genes, misinitiation of enhanced transcription is a real possibility.
 ...
PMID:Various regulatory sequences are deprived of their uniqueness by the universal rule of TA/CG deficiency and TG/CT excess. 213 47

The "viable motheaten" (mev) mutation in the C57BL/6 (B6) mouse causes in mev-homozygous B6 mice a rapidly progressing and fatal autoimmune syndrome, combined with a generalized immunodeficiency. Serological analyses of a large number of mev/mev individual mice revealed profound abnormalities of the levels of various spontaneously occurring, natural antibodies and of the levels and distribution of the different classes of immunoglobulins, some common to all mev/mev mice and some specific to individual mice. Although very high serum IgM levels (70X the normal B6 mouse serum level) and high anti-ssDNA titers are common features, the increases in the other immunoglobulin isotypes are not so marked (4.7X for IgG3, 2.7X for IgA, 1.6X for IgG1 and IgG2b, and even 0.6X for IgG2a), and the occurrence of other natural antibody specificities shows more individual variability.
 ...
PMID:Common and individual features of the humoral immunity dysregulation of mice homozygous at the viable motheaten (mev) mutation. 235 66

Sera from healthy seropositive donors, patients with acute measles, subacute sclerosing panencephalitis, common variable immunodeficiency, and CH gene deletions were analysed for anti-measles IgG1-4. Compared with other anti-viral immune responses of IgG1 and IgG3, an unusual predominance of specific IgG1 prevailed; only four out of a total of 68 patients showed anti-measles IgG3. Of the 17 healthy, measles seropositive serum donors, all showed specific IgG1, none showed IgG3 and six had IgG4. Eight out of 10 patients with SSPE showed an anti-measles IgG1 and IgG4 response while IgG3 was not seen. The IgG1 and IgG4 subclass patterns had some exceptions. Anti-measles IgG3 was found in five out of five patients with deletion of the gamma-1 encoding gene segments and in four out of 15 patients with recent measles antigen stimulation. The subclass pattern was suggested to reflect the immunological compromise associated with measles infections.
 ...
PMID:Aberrant IgG subclass distribution to measles in healthy seropositive individuals, in patients with SSPE and in immunoglobulin-deficient patients. 235 47

Immunophenotypic analysis on 34 cases of T-cell malignancies using monoclonal antibodies against T-cell receptors (TCR) revealed 25 cases of alpha beta-type and two of gamma delta-type. The two patients with gamma delta-type showed cutaneous involvement of tumor cells. Immunoblastic lymphadenopathy (IBL)-like T-cell lymphoma is divided into three histologic categories; inconspicuous type, patchy type and diffuse type. DNA hybridization analysis revealed that 11 of 16 cases showed clonal rearrangement of TCR beta-chain gene without rearrangement of immunoglobulin heavy chain gene, providing strong evidence for clonal proliferation of T-cells. Among 185 patients with adult T-cell leukemia (ATL), 18 cases (9.7%) were found not to be associated with human T-cell leukemia virus type I (HTLV-I). They consisted of 10 of acute type, five of chronic type, two of lymphoma type and one of smoldering type, indicating a diversity in clinical features. Two Japanese patients with ATL developed secondary monoclonal B-cell lymphomas of diffuse, large cell, non-Burkitt type. They were seropositive for HTLV-I but negative for human immunodeficiency virus (HIV). They also suffered from pulmonary tuberculosis, and one from adenovirus type 11-induced hemorrhagic cystitis, indicating an immunodeficient state. Epstein-Barr virus genome was found in lymphoma cells from one patient. It is suggested that opportunistic B-cell lymphomas may occur in the immunodeficient stage of ATL.
 ...
PMID:[Recent advances in clinical research on T-cell lymphoma]. 239 7

The chromosomal breakage syndromes--ataxia-telangiectasia, Fanconi's anemia, and Bloom's syndrome--are associated with growth failure, neurologic abnormalities, immunodeficiency, and an increased incidence of malignancy. The relationship between these features is unknown. We recently evaluated a 21-year-old female with more severe chromosomal breakage, immunodeficiency, and growth failure than in any of the mentioned disorders. As of November 1985, the patient remains clinically free of malignancy. At age 18, the patient's weight was 22.6 kg (50th percentile for seven years), height was 129 cm (50th percentile for eight years), and head circumference was 42 cm (50th percentile for six months). Laboratory studies demonstrated a marked decrease in both B and T cell number and function. The peripheral blood contained 400 to 900 lymphocytes/microL with 32% T11 cells, 17% T4 cells, and 21% T8 cells. The proliferative responses to phytohemagglutinin (PHA), pokeweed mitogen, and concanavalin A were less than 10% of control. There were 1% surface IgM positive cells, and serum IgG was 185 mg/dL, IgM 7 mg/dL, IgA 5 mg/dL. In lymphocyte cultures stimulated with the T cell mitogens PHA, phorbol ester, and interleukin 2, 55% of the banded metaphases demonstrated breaks or rearrangements. The majority of the breaks involved four fragile sites on chromosomes 7 and 14, 7p13, 7q35, 14q11, and 14q32. These are the sites of the genes for the T cell-antigen receptor and the immunoglobulin heavy chain and are sites of gene rearrangement in lymphocyte differentiation. Epstein-Barr virus stimulated B cells and fibroblast cultures also demonstrated a high incidence of breaks, but the sites were less selective. These findings suggest that the sites of chromosomal fragility in the chromosomal breakage syndromes may be informative and that factors other than the severity of the immunodeficiency or the high incidence of chromosomal damage may contribute to the occurrence of malignancy in the chromosomal breakage syndromes.
 ...
PMID:A chromosomal breakage syndrome with profound immunodeficiency. 242 4

In a 64-year-old patient with typical common variable immunodeficiency (CVID) DNA prepared from peripheral blood lymphocytes (PBL) showed a prominent immunoglobulin heavy chain (IgH) gene rearrangement; the immunoglobulin light chain (IgL) genes were found to be in the germline configuration. In contrast, a 13-year-old girl with a hitherto unidentified immunodeficiency showed polyclonal IgH gene rearrangements and a dominant IgL gene rearrangement. In both cases neither monoclonal B-lymphocytes nor monoclonal immunoglobulins were detectable. Our explanation for this unusual observation is that V-gene use in a given B-cell is not entirely random. This may be the consequence of a maturation arrest of B-cells.
 ...
PMID:[Unusual immunoglobulin gene rearrangements in patients with immunodeficiency]. 249 63

We present two patients with human immunodeficiency virus-1 (HIV-1) infection in whom T-cell non-Hodgkin lymphoma developed, based on pathologic diagnosis, immunophenotyping, and T-cell receptor gene rearrangement. Both cases were positive for human immunodeficiency virus-1 by enzyme-linked immunosorbent assay and immunoblot methods. Histologic sections from each patient showed a high-grade pleomorphic T-cell non-Hodgkin lymphoma, and immunophenotyping demonstrated a prevalence of reactivity for CD4 (helper) over CD8 (suppressor) antigens. T-cell receptor beta-chain gene rearrangement studies revealed a rearranged pattern with either the HindIII or BamHI enzymes, whereas immunoglobulin heavy chain genes retained a germ-line configuration. Viral sequences specific for human T-cell leukemia virus-I, human T-cell leukemia virus-II, or HIV-1 were not detected. Thus, although rare, T-cell non-Hodgkin lymphoma may be observed in HIV-1-infected individuals.
 ...
PMID:T-cell non-Hodgkin lymphoma in human immunodeficiency virus-1-infected individuals. 250 Aug 50

In immunodeficiency patients the lack of immunoglobulins (Ig) can be total or partial with a specific IgG subclass imbalance masked by normal values for total IgG. In the latter case therapy with intravenous IgG preparations (IVIG) is generally beneficial, provided the IVIG preparations used originate from large pools of normal blood donors and exhibit a normal IgG subclass distribution. We have analyzed the subclass distribution of three IVIG products: Sandoglobulin (SAGL), GamimuneN (GI), Gammagard (GG), 6-10 lots each, in four different laboratories. The competitive enzyme immunoassays and radial immunodiffusion methods used different monoclonal and polyclonal antibodies specific for IgG1, IgG2, IgG3, and IgG4, respectively. Despite minor interlaboratory differences, the results show that the slightly lower IgG1 content of SAGL versus GI and GG was quantitatively compensated by a higher proportion of IgG2, that no differences existed in IgG3 levels, but that one preparation (SAGL) contained 2-3% of IgG4 compared to 0.5-1.5% in GI and below 0.5% in GG. This difference was significant, the two latter preparations being at or below the lower limit of what are considered to be normal values found in human adults. Such differences may have important clinical consequences.
 ...
PMID:Immunoglobulin G subclass distribution in three human intravenous immunoglobulin preparations. 250 24

A 3-year-old boy who developed common variable immunodeficiency was investigated for the development of hypogammaglobulinaemia. During a period of 4 years, the combined deficiency of IgA, IgG2 and IgG4 proceeded to include IgG1 and finally IgG3 and IgM. This order of isotypes of IgG subclass deficiencies corresponded to the gene order for the heavy chain constant region for immunoglobulins on chromosome 14.
 ...
PMID:Development of hypogammaglobulinaemia in a patient with common variable immunodeficiency. 261 5

An area of great controversy in molecular immunology is the mechanism by which the differential expression of secretory and membrane immunoglobulin heavy chain is regulated during B cell development. Since the changes in expression of the two proteins are determined largely by the steady state levels of the mRNAs that encode them, recent work has focused on the regulation of the expression of the two messages. This problem is central to understanding humoral immunity, with the specific antigen driven switch from antibody as receptor to antibody as secreted product and may be of direct relevance to some forms of the common variable immunodeficiency syndrome. In addition, numerous other genes have been shown to be regulated by alternative RNA processing. Since its beginnings, research in immunology has brought about profound changes in our view of biology. Jenner's landmark experiment, inducing a minor illness to prevent a major one, showed that the body's future susceptibility to a particular disease could be manipulated. More recently the demonstration that immunoglobulin V, D, and J gene segments, originally spread over many kilobases (kbs) in the genome, must be assembled to form a functional heavy chain gene has shattered both the concept of a genome fixed at fertilization and the "one gene, one protein" rule. The alternative processing of heavy chain transcripts to produce secretory and membrane forms of immunoglobulin has demonstrated how the same gene can give rise to proteins with alternative structures. Since the discovery of the role of alternative RNA processing in heavy chain mRNA synthesis, numerous other cellular genes have been shown to be regulated by modulation of RNA processing pathways.
 ...
PMID:Regulation of the production of secretory and membrane immunoglobulin during lymphocyte development. 264 62


<< Previous 1 2 3 4 5 6 7 8 9 10 Next >>